
杨正林
学术任职
现任国家自然基金委医学部咨询专家,中华医学会医学遗传学专业委员会常委,中华医学会眼科专业委员会基础研究发展委员会副主任,中华医学会检验专业委员会委员,四川省医学会检验专业委员会主任委员, 四川省医学会医学遗传专业委员会侯任主任委员。
科研成果
第一主研四川省科技进步一等奖和二等奖各2项。第一作者论文入选Science杂志2006年评出的世界科技十大突破第六项内容。发表SCI论文89篇,影响因子685分,被他引2700次,其中第一(含并列)/通讯作者(含并列)在New England Journal of Medicine, Science, Nature Genetics, Journal of Clinical Investigation, American Journal of Human Genetics, PNAS等学术杂志SCI论文52篇(影响因子410分);参与研究论文在Nature, Nature Genetics等著名学术杂志发表。
文献发表
Two novel mutations on exon 8 and intron 65 of COL7A1 gene in two Chinese brothers result in recessive dystrophic epidermolysis bullosa.
PLoS One. 2012;7(11):e50579. doi: 10.1371/journal.pone.0050579. Epub 2012 Nov 30.
[Association study between age-related macular degeneration and R1210C mutation of CFH gene in Chinese population].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi.
2012 Oct;29(5):570-2. doi: 10.3760/cma.j.issn.1003-9406.2012.05.015. Chinese.
[Linkage analysis of a family with familial hypertriglyceridemia].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi.
2009 Oct;26(5):499-503. doi: 10.3760/cma.j.issn.1003-9406.2009.05.004. Chinese.
[A novel GJA8 mutation in a Chinese family with autosomal dominant congenital cataract].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008 Feb;25(1):59-62. Chinese.
[The simple gain of templates of rice genomes DNA for PCR].
Yi Chuan. 2003 Nov;25(6):705-7. Chinese.
[Analysis on the inheritance of inhibition and anti-inhibition of coleoptile purple line in rice and the SSR location of Ai(t) gene].
Yi Chuan Xue Bao. 2004 Aug;31(8):830-5. Chinese.